SLC11A1, solute carrier family 11 member 1, 6556

N. diseases: 141; N. variants: 14
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C1864868
Disease: BURULI ULCER, SUSCEPTIBILITY TO
BURULI ULCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.100 1.000 13 2002 2015
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.090 1.000 9 2005 2017
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.030 0.667 3 2000 2018
dbSNP: rs3731865
rs3731865 		0.882 0.160 2 218385280 non coding transcript exon variant G/A;C;T snv 0.23; 1.4E-04
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.030 1.000 3 2009 2015
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0023283
Disease: Leishmaniasis, Cutaneous
Leishmaniasis, Cutaneous 		Infections; Skin and Connective Tissue Diseases 0.020 1.000 2 2017 2019
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0085568
Disease: Buruli Ulcer
Buruli Ulcer 		Infections; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2017
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.020 1.000 2 2006 2009
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral 		Infections 0.020 1.000 2 2014 2019
dbSNP: rs17235416
rs17235416 		0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.020 1.000 2 2009 2015
dbSNP: rs2279015
rs2279015 		0.882 0.080 2 218394547 non coding transcript exon variant G/A snv 0.51
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral 		Infections 0.020 1.000 2 2015 2019
dbSNP: rs3731865
rs3731865 		0.882 0.160 2 218385280 non coding transcript exon variant G/A;C;T snv 0.23; 1.4E-04
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2009 2015
dbSNP: rs1059823
rs1059823 		1.000 0.040 2 218395121 3 prime UTR variant A/G snv 0.52
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs17221959
rs17221959 		0.882 0.160 2 218387907 synonymous variant C/T snv 7.0E-02 0.12
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17221959
rs17221959 		0.882 0.160 2 218387907 synonymous variant C/T snv 7.0E-02 0.12
CUI: C0023283
Disease: Leishmaniasis, Cutaneous
Leishmaniasis, Cutaneous 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17221959
rs17221959 		0.882 0.160 2 218387907 synonymous variant C/T snv 7.0E-02 0.12
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0026916
Disease: Mycobacterium avium-intracellulare Infection
Mycobacterium avium-intracellulare Infection 		Infections 0.010 1.000 1 2007 2007
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections 		Infections 0.010 1.000 1 2012 2012
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 < 0.001 1 2016 2016
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0037116
Disease: Silicosis
Silicosis 		Respiratory Tract Diseases; Occupational Diseases 0.010 1.000 1 2007 2007
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0206526
Disease: Tuberculosis, Multidrug-Resistant
Tuberculosis, Multidrug-Resistant 		Infections 0.010 1.000 1 2008 2008